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rs797045550

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045550(C;C)
Make rs797045550(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44867806
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs797045550
ebirs797045550
HLIrs797045550
Exacrs797045550
Varsomers797045550
Maprs797045550
PheGenIrs797045550
hapmaprs797045550
1000 genomesrs797045550
hgdprs797045550
ensemblrs797045550
gopubmedrs797045550
geneviewrs797045550
scholarrs797045550
googlers797045550
pharmgkbrs797045550
gwascentralrs797045550
openSNPrs797045550
23andMers797045550
23andMe allrs797045550
SNP Nexus

SNPshotrs797045550
SNPdbers797045550
MSV3drs797045550
GWAS Ctlgrs797045550
Max Magnitude0
ClinVar
Risk rs797045550(C;C)
Alt rs797045550(C;C)
Reference Rs797045550(G;G)
Significance Pathogenic
Disease Growth and mental retardation
Variation info
Gene EFTUD2
CLNDBN Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Reversed 1
HGVS NC_000017.10:g.42945174C>G
CLNSRC
CLNACC RCV000194510.1,